Mutagenetix > Incidental Mutation

Incidental Mutation 'R7569:Pierce1'

585619

Institutional Source

Beutler Lab

Gene Symbol

Pierce1

Ensembl Gene

ENSMUSG00000026831

Gene Name

piercer of microtubule wall 1

Synonyms

1700007K13Rik

MMRRC Submission

045657-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.068) question?

Stock #

R7569 (G1)

Quality Score

134.457

Status

Not validated

Chromosome

Chromosomal Location

28352013-28356336 bp(-) (GRCm39)

Type of Mutation

small deletion (14 aa in frame mutation)

DNA Base Change (assembly)

TCTCTGGGGCAGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTCTGGGGCAGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTCTGGGGCGGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTC to TCTCTGGGGCAGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTCTGGGGCGGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTC at 28356122 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000116111 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000038600] [ENSMUST00000086370] [ENSMUST00000127683]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000038600

SMART Domains

Protein: ENSMUSP00000036725
Gene: ENSMUSG00000035772

Domain	Start	End	E-Value	Type
Pfam:Ribosomal_S2	81	182	4.6e-23	PFAM
Pfam:Ribosomal_S2	180	257	7.3e-21	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000086370

SMART Domains

Protein: ENSMUSP00000083557
Gene: ENSMUSG00000026831

Domain	Start	End	E-Value	Type
Pfam:DUF4490	35	137	1.4e-46	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000127683

SMART Domains

Protein: ENSMUSP00000116111
Gene: ENSMUSG00000026831

Domain	Start	End	E-Value	Type
Pfam:DUF4490	33	122	1.5e-29	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

98% (58/59)

MGI Phenotype

PHENOTYPE: Mice homozygous for a knock-out allele exhibit severe laterality defects, including situs inversus totalis and heterotaxy with randomized situs and left and right isomerisms. Homozygous embryos with isomerisms die in utero due to associated cardiovascular malformations. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9330182O14Rik	A	T	15: 40,008,344 (GRCm39)	T73S	unknown	Het
Acvrl1	A	G	15: 101,033,636 (GRCm39)	Q106R	probably benign	Het
Adgb	A	T	10: 10,306,996 (GRCm39)	D329E	probably benign	Het
Ankrd12	A	T	17: 66,289,900 (GRCm39)	D1844E	probably damaging	Het
Ankub1	G	A	3: 57,573,039 (GRCm39)	R228*	probably null	Het
Apol6	A	C	15: 76,934,898 (GRCm39)		probably benign	Het
Ascc2	G	A	11: 4,629,506 (GRCm39)	V618M	probably damaging	Het
Asic3	A	G	5: 24,619,046 (GRCm39)	T113A	probably benign	Het
BC034090	T	A	1: 155,093,151 (GRCm39)	H769L	probably benign	Het
Bcl11a	G	T	11: 24,035,458 (GRCm39)	E65*	probably null	Het
Birc6	G	T	17: 74,905,077 (GRCm39)	R1290L	possibly damaging	Het
C6	A	G	15: 4,819,063 (GRCm39)	E465G	probably benign	Het
Cav2	T	A	6: 17,282,078 (GRCm39)	I112N	probably damaging	Het
Cep131	G	A	11: 119,957,539 (GRCm39)	A848V	probably damaging	Het
Col8a1	T	A	16: 57,447,555 (GRCm39)	I652F	unknown	Het
Cul4a	A	G	8: 13,173,493 (GRCm39)	N180S	probably benign	Het
Dhx38	A	G	8: 110,287,327 (GRCm39)	S214P	probably damaging	Het
Dmxl2	A	G	9: 54,323,271 (GRCm39)	V1197A	possibly damaging	Het
Dynlt1f	A	G	17: 6,923,181 (GRCm39)	S7P	not run	Het
Eef1ece2	T	A	16: 20,461,237 (GRCm39)	Y641*	probably null	Het
Epha1	T	A	6: 42,342,356 (GRCm39)	T331S	possibly damaging	Het
Hus1b	A	G	13: 31,130,847 (GRCm39)	Y271H	probably damaging	Het
Kmt2b	A	G	7: 30,268,978 (GRCm39)	V2610A	possibly damaging	Het
Lama2	A	G	10: 27,141,046 (GRCm39)	L651P	probably damaging	Het
Lgr5	T	C	10: 115,298,661 (GRCm39)	Y361C	probably damaging	Het
Map1s	T	C	8: 71,366,142 (GRCm39)	V349A	probably benign	Het
Map3k6	A	G	4: 132,977,388 (GRCm39)	R912G	probably benign	Het
Mtarc2	A	T	1: 184,573,622 (GRCm39)	F92Y	possibly damaging	Het
Nampt	T	A	12: 32,900,433 (GRCm39)	H459Q	probably benign	Het
Nlrp1a	T	C	11: 70,999,869 (GRCm39)	M817V	probably benign	Het
Npsr1	A	G	9: 24,225,026 (GRCm39)	R345G	probably benign	Het
Nuak2	G	A	1: 132,244,019 (GRCm39)	A18T	possibly damaging	Het
Or4d6	T	C	19: 12,086,385 (GRCm39)	D175G	possibly damaging	Het
Or5ak23	A	G	2: 85,244,479 (GRCm39)	V248A	probably damaging	Het
Ppp4r3b	T	C	11: 29,138,540 (GRCm39)	F296S	possibly damaging	Het
Pramel51	A	T	12: 88,143,085 (GRCm39)	Y373N	probably benign	Het
Pycr2	T	C	1: 180,732,083 (GRCm39)	F19L	probably benign	Het
Robo2	T	A	16: 73,832,003 (GRCm39)	T226S	possibly damaging	Het
Rock1	A	T	18: 10,140,194 (GRCm39)	N132K	probably damaging	Het
Rp1	A	T	1: 4,355,063 (GRCm39)	L379Q	unknown	Het
Sema6d	A	G	2: 124,499,892 (GRCm39)	I323V	possibly damaging	Het
Slc12a4	A	G	8: 106,672,479 (GRCm39)	I814T	probably damaging	Het
Slc18a2	G	A	19: 59,272,584 (GRCm39)	G352R	probably damaging	Het
Slc39a14	T	C	14: 70,547,276 (GRCm39)	T357A	possibly damaging	Het
Smarcad1	T	A	6: 65,029,695 (GRCm39)	D94E	probably benign	Het
Sorcs2	A	G	5: 36,183,220 (GRCm39)	Y1018H	probably benign	Het
Srebf1	G	T	11: 60,090,947 (GRCm39)	T1069K	possibly damaging	Het
St3gal3	A	G	4: 117,821,553 (GRCm39)	V123A	probably benign	Het
Stradb	A	G	1: 59,030,310 (GRCm39)	Y188C	unknown	Het
Styxl2	T	C	1: 165,935,604 (GRCm39)	D198G	probably damaging	Het
Sult2a2	T	C	7: 13,513,430 (GRCm39)	F186L	probably benign	Het
Syne2	A	G	12: 75,974,164 (GRCm39)	T1120A	probably benign	Het
Taok1	A	T	11: 77,446,440 (GRCm39)	S430T	probably benign	Het
Tmem62	A	T	2: 120,837,411 (GRCm39)	I573L	probably benign	Het
Trav9-1	T	C	14: 53,725,581 (GRCm39)	S7P	probably benign	Het
U2af1l4	A	T	7: 30,262,982 (GRCm39)	I24F	probably damaging	Het
Usp33	T	A	3: 152,097,302 (GRCm39)	I840N	probably damaging	Het
Vmn2r74	A	C	7: 85,601,544 (GRCm39)	I698S	probably damaging	Het
Zfp352	C	T	4: 90,111,896 (GRCm39)	P12L	possibly damaging	Het
Zfp507	T	A	7: 35,493,969 (GRCm39)	E358V	probably damaging	Het

Other mutations in Pierce1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02732:Pierce1	APN	2	28,355,192 (GRCm39)	missense	probably damaging	0.97
R0423:Pierce1	UTSW	2	28,356,036 (GRCm39)	splice site	probably benign
R0604:Pierce1	UTSW	2	28,356,103 (GRCm39)	missense	possibly damaging	0.55
R6580:Pierce1	UTSW	2	28,356,062 (GRCm39)	missense	probably damaging	1.00
R6819:Pierce1	UTSW	2	28,356,122 (GRCm39)	small deletion	probably benign
R7292:Pierce1	UTSW	2	28,356,122 (GRCm39)	small deletion	probably benign
R7351:Pierce1	UTSW	2	28,356,122 (GRCm39)	small deletion	probably benign
R7441:Pierce1	UTSW	2	28,356,122 (GRCm39)	small deletion	probably benign
R7620:Pierce1	UTSW	2	28,356,122 (GRCm39)	small deletion	probably benign
R7802:Pierce1	UTSW	2	28,356,122 (GRCm39)	small deletion	probably benign
R7898:Pierce1	UTSW	2	28,356,122 (GRCm39)	small deletion	probably benign
R7959:Pierce1	UTSW	2	28,352,369 (GRCm39)	missense	probably damaging	1.00
R8300:Pierce1	UTSW	2	28,352,435 (GRCm39)	nonsense	probably null
R9229:Pierce1	UTSW	2	28,352,390 (GRCm39)	missense	probably damaging	0.97
R9378:Pierce1	UTSW	2	28,356,122 (GRCm39)	small deletion	probably benign
R9423:Pierce1	UTSW	2	28,356,122 (GRCm39)	small deletion	probably benign
R9450:Pierce1	UTSW	2	28,356,122 (GRCm39)	small deletion	probably benign
R9599:Pierce1	UTSW	2	28,356,122 (GRCm39)	small deletion	probably benign

Predicted Primers

PCR Primer
(F):5'- AGTAGCCACAGCCACTTGAG -3'
(R):5'- AGGTGACTTCATTGCCTAGC -3'

Sequencing Primer
(F):5'- ACAGCCACTTGAGAGTTCTC -3'
(R):5'- TTGCCTAGCAACAGGACG -3'

Posted On

2019-10-17